Associated Papers
Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.
Cronbach N et al.
Pharmaceuticals (basel, Switzerland), 2025
Exome sequencing identifies existing and novel variants in a South African cohort presenting with anterior segment dysgenesis.
Marutha T et al.
Gene, 2025
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.
Wang L et al.
Orphanet Journal of Rare Diseases, 2024
Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Reis LM et al.
Progress in Retinal and Eye Research, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.
Vasilyeva TA et al.
International Journal of Molecular Sciences, 2023
Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.
Kit V et al.
Jci Insight, 2021
Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.
Bell S et al.
Genes, 2021
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
Syrimis A et al.
Molecular Medicine Reports, 2018
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
Primignani P et al.
Ophthalmic Genetics, 2016
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Deml B et al.
European Journal of Human Genetics : Ejhg, 2016
Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.
Chograni M et al.
Human Genome Variation, 2014
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.
Park SH et al.
Molecular Vision, 2012
Mutation spectrum of PAX6 in Chinese patients with aniridia.
Zhang X et al.
Molecular Vision, 2011
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
Chien YH et al.
Molecular Vision, 2009
PAX6 aniridia and interhemispheric brain anomalies.
Abouzeid H et al.
Molecular Vision, 2009
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
Hingorani M et al.
Investigative Ophthalmology & Visual Science, 2009